Variant report

Variant	rs6463019
Chromosome Location	chr7:4785387-4785388
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4769819..4771517-chr7:4783314..4786032,2	MCF-7	breast:
2	chr7:4776716..4781716-chr7:4782818..4787338,6	MCF-7	breast:
3	chr6:49430771..49431514-chr7:4784954..4785793,2	Hela-S3	cervix:
4	chr7:4782605..4786224-chr7:4813010..4816039,5	K562	blood:
5	chr7:4784548..4788460-chr7:4798127..4799937,3	MCF-7	breast:
6	chr7:4782540..4785616-chr7:4814219..4816404,3	MCF-7	breast:
7	chr7:4777751..4781095-chr7:4782680..4786251,6	K562	blood:
8	chr7:4783269..4785885-chr7:4788147..4790015,2	K562	blood:
9	chr7:4720242..4723190-chr7:4783988..4786279,2	K562	blood:
10	chr7:4723633..4728859-chr7:4783438..4786381,5	K562	blood:
11	chr7:4784407..4787081-chr7:4798236..4801069,2	K562	blood:
12	chr7:4783569..4786277-chr7:4791910..4794982,3	K562	blood:
13	chr7:4680522..4682464-chr7:4783695..4785954,3	MCF-7	breast:
14	chr7:4762980..4766999-chr7:4782747..4785912,5	MCF-7	breast:
15	chr7:4771743..4774713-chr7:4783422..4786273,3	MCF-7	breast:
16	chr7:4670793..4673336-chr7:4784498..4786362,2	K562	blood:
17	chr7:4762343..4766286-chr7:4781806..4786084,5	MCF-7	breast:
18	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000031691	Chromatin interaction
ENSG00000242802	Chromatin interaction
ENSG00000164916	Chromatin interaction
ENSG00000146085	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10228886	0.90[ASN][1000 genomes]
rs10232008	0.90[ASN][1000 genomes]
rs10257680	0.84[ASN][1000 genomes]
rs10261971	0.81[ASN][1000 genomes]
rs10277273	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12701913	0.92[ASN][1000 genomes]
rs13232425	0.81[ASN][1000 genomes]
rs7781115	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7784748	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4779600-4785400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:4782600-4785600	Enhancers	Fetal Kidney	kidney
3	chr7:4782600-4785600	Enhancers	NH-A	brain
4	chr7:4782600-4786400	Weak transcription	Ovary	ovary
5	chr7:4783000-4785400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:4783000-4785400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:4783200-4788200	Enhancers	Fetal Heart	heart
8	chr7:4783400-4791000	Weak transcription	Gastric	stomach
9	chr7:4784000-4785600	Flanking Active TSS	Dnd41	blood
10	chr7:4784000-4785600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:4784000-4786000	Flanking Active TSS	Fetal Thymus	thymus
12	chr7:4784000-4786200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:4784000-4786400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:4784000-4786600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr7:4784000-4786600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:4784000-4787000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:4784200-4785600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr7:4784200-4785600	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr7:4784200-4786200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:4784200-4801400	Weak transcription	Small Intestine	intestine
21	chr7:4784400-4785400	Active TSS	Primary T cells from cord blood	blood
22	chr7:4784400-4785400	Enhancers	Colon Smooth Muscle	Colon
23	chr7:4784400-4785400	Enhancers	Stomach Mucosa	stomach
24	chr7:4784400-4785600	Active TSS	HSMM	muscle
25	chr7:4784400-4785800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr7:4784400-4785800	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr7:4784400-4786000	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr7:4784400-4786000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:4784400-4786000	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr7:4784400-4786000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:4784400-4786200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr7:4784400-4786200	Enhancers	Brain Substantia Nigra	brain
33	chr7:4784400-4786400	Weak transcription	Lung	lung
34	chr7:4784400-4786600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr7:4784400-4786600	Enhancers	Brain Angular Gyrus	brain
36	chr7:4784600-4785400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:4784600-4785400	Enhancers	NHDF-Ad	bronchial
38	chr7:4784600-4785400	Active TSS	Osteobl	bone
39	chr7:4784600-4785600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:4784600-4785600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:4784600-4785600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:4784600-4786000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr7:4784600-4786000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:4784600-4786000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:4784600-4786000	Active TSS	Brain Anterior Caudate	brain
46	chr7:4784600-4786200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:4784600-4786200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:4784600-4786200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:4784600-4786400	Weak transcription	Left Ventricle	heart
50	chr7:4784600-4786600	Enhancers	HSMMtube	muscle

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